Variant report

Variant	rs12061032
Chromosome Location	chr1:47719822-47719823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47705490..47714722-chr1:47717231..47723503,17	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11211487	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211494	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211509	0.85[AMR][1000 genomes]
rs11802603	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092248	0.85[AMR][1000 genomes]
rs12239246	0.85[AMR][1000 genomes]
rs13374419	0.85[AMR][1000 genomes]
rs57573975	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59216068	0.85[AMR][1000 genomes]
rs61243812	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6588095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6660505	0.85[AMR][1000 genomes]
rs74074045	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7512955	0.85[AMR][1000 genomes]
rs7555179	0.85[AMR][1000 genomes]
rs9988633	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv441692	chr1:47713661-47729088	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
2	nsv822531	chr1:47713892-47730083	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47705200-47766400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:47705600-47766400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:47707600-47722800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:47709800-47725400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:47709800-47726000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:47709800-47745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:47711000-47727800	Weak transcription	A549	lung
8	chr1:47712400-47720400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:47712600-47724200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:47712600-47735000	Weak transcription	NHDF-Ad	bronchial
11	chr1:47712600-47742600	Weak transcription	Fetal Lung	lung
12	chr1:47712800-47729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:47712800-47745600	Weak transcription	Fetal Brain Female	brain
14	chr1:47713000-47736400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:47713200-47745800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:47713600-47725400	Weak transcription	Osteobl	bone
17	chr1:47713800-47725400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:47713800-47745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:47714000-47724200	Weak transcription	Fetal Stomach	stomach
20	chr1:47714200-47724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:47714200-47726600	Weak transcription	NHLF	lung
22	chr1:47714400-47725400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:47714400-47726200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:47714400-47779200	Weak transcription	Small Intestine	intestine
25	chr1:47714600-47745800	Weak transcription	Primary B cells from cord blood	blood
26	chr1:47714600-47778400	Weak transcription	Fetal Heart	heart
27	chr1:47714800-47732000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:47714800-47741200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:47714800-47742800	Weak transcription	Fetal Kidney	kidney
30	chr1:47714800-47746000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:47715200-47720000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:47715400-47730000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:47715400-47740000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:47715600-47749200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:47715800-47735400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:47716600-47724400	Strong transcription	K562	blood
37	chr1:47716600-47739200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:47716600-47772600	Strong transcription	Dnd41	blood
39	chr1:47716800-47739000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:47717000-47725600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:47717000-47745800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:47717200-47720600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:47717600-47721000	Weak transcription	HUVEC	blood vessel
44	chr1:47717600-47722600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:47717600-47723400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:47717600-47725200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:47717600-47725600	Weak transcription	NH-A	brain
48	chr1:47717600-47727800	Weak transcription	NHEK	skin
49	chr1:47717800-47721000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:47717800-47721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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